genomics

Question 1

what is genetics

Answer 1

the study of heredity

Question 2

what is genomics

Answer 2

structural and functional mapping of genomes and their evolution

Question 3

what is a gene

Answer 3

basic physical and functional unit of heredity

Question 4

4 things genomics allows us to do

Answer 4

functional studies
tracking viral infections/variants
tracking gene transfer
tracking drug resistance

Question 5

how is dna stored within cell

Answer 5

chromatin- condenses into chromosomes

Question 6

name the 4 bases

Answer 6

a= adenine
g=guanine
t= thymine
c= cytosine

Question 7

what are 3 nucleotides called

Answer 7

codon

Question 8

what is exon

Answer 8

protein coding region of dna strand

Question 9

what is intron

Answer 9

non-coding region of dna strand

Question 10

name 4 structural proteins

Answer 10

1.collagen
2.elastin
3.keratin
4.desmoglein

Question 11

name 4 functional proteins

Answer 11

1.enzymes
2.ion channels
3. neurotransmitter receptors
4.antibodies

Question 12

name 2 ways proteins are formed

Answer 12

alternative gene splicing
post-traditional modification

Question 13

what is a pseudogene

Answer 13

non-functional gene / damaged

Question 14

what is a genotype

Answer 14

someone’s complete set of genetic material including the various variant genes that they carry

Question 15

give 2 overall reasons for variation

Answer 15

1. sexual reproduction
2. random mutations

Question 16

give 2 physical types of variant

Answer 16

1. single nucleotide variants
   2.INDELS- insertions and deletions

Question 17

name 2 types of single nucleotide variants

Answer 17

1. missense mutation- single nucleotide been substituted for a different one
   2.nonsense mutation- single nucleotide subbed and changed cause pseudogene

Question 18

give 3 structural variations

Answer 18

translocations- chromosomal abnormalities
inversions- reversal of genetic coding
large deletions- >1000 basepairs

Question 19

what is bioinformatics

Answer 19

analysis, storage, annotation and retrieval of genomic data

Question 20

what is an example of genetic testing

Answer 20

blood tests

Question 21

3 uses of bioinformatics in healthcare

Answer 21

identify individual risk factors
promote early diagnosis
inform strategies for conventional treatments